Searchable abstracts of presentations at key conferences in endocrinology

ea0029s51.2 | Recent management of pheochromocytoma/paraganglioma syndrome | ICEECE2012

Prevalence of SDH gene mutations in pheochromocytoma

Opocher G.

Hereditary pheochromocytoma/paraganglioma (PHEO/PGL) syndrome is a rare disease. It has been demonstrated that about 25% of the apparently sporadic PHEO/PGL are due to a germ line mutation in one of the susceptibility genes, such as, VHL, RET, NF1, TMEM127, MAX and the genes encoding the four subunits of the mitochondrial enzyme succinate dehydrogenase (SDH) as well as the gene encoding one SDH assembly factor, SDHAF2. SDH is located in the inner mitochondrial membrane and is ...

ea0029p1816 | Thyroid cancer | ICEECE2012

Thyroid paraganglioma. Report of 3 cases and description of an immunohistochemical profile useful in the differential diagnosis with medullary thyroid carcinoma, based on complementary DNA array results

Castelblanco E. , Gallel P. , Ros S. , Gatius S. , Valls J. , De-Cubas A. , Maliszewska A. , Yebra-Pimentel M. , Menarguez J. , Gamallo C. , Opocher G. , Robledo M. , Matias-Guiu X.

Thyroid paraganglioma (TP) is a rare disorder that sometimes poses problems in differential diagnosis with medullary thyroid carcinoma (MTC). So far, differential diagnosis is solved with the help of some markers that are frequently expressed in MTC (TTF1, calcitonin, and CEA). However, some of these markers are not absolutely specific of MTC and may be expressed in other tumors. Here we report 3 new cases of TP and describe our strategy to design a diagnostic immunohistochemi...

ea0011p528 | Endocrine tumours and neoplasia | ECE2006

Characterization of familial non-syndromic pheochromocytoma

Opocher G , Schiavi F , Iacobone M , Sattarova S , Erlic Z , Martella M , Mian C , Zambonin L , De Lazzari P , Murgia A , Favia G , Mantero F

Hereditable forms account for 30–40% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...

ea0019oc14 | Neuroendocrine and Steroids | SFEBES2009

Urinary steroid profiling as a biomarker tool for the detection of adrenal malignancy: results of the EURINE ACC Study

Arlt W , Hahner S , Libe R , Hughes BA , Biehl M , Stiekema H , Schneider P , Smith DJ , Shackleton CHL , Opocher G , Bertherat J , Allolio B , Mannelli M , Mantero F , Fassnacht M , Bertagna X , Stewart PM

Adrenal tumours have an incidence of 2–3% in the general population. Adrenocortical carcinoma (ACC), a highly malignant tumor with a poor prognosis, has an annual incidence of two per million but representation in pre-selected patient cohorts with adrenal masses undergoing surgery is up to 12%. Differentiating adrenocortical adenomas (ACA) from ACC represents a continuous challenge, with unfavourable sensitivities and specificities provided by tumour size, imaging criteri...

ea0011p527 | Endocrine tumours and neoplasia | ECE2006

Origin and spread of the SDHD p.Y114C mutation causing head and neck paraganglioma in Trentino, Italy

Schiavi F , Erlic Z , Savvoukidis T , Demattè S , Del Piano A , Cecchini ME , Amistà P , Grego F , Trabalzini F , Hoffman M , Schwentek A , Mantero F , Branz F , Neumann HPH , Opocher G

Head and neck paragangliomas (HNPs) are tumors derived from the neuroectoderm. HNPs are generally hormonally silent and often asymptomatic. They can be part of the Pheochromocytoma/ Paraganglioma Syndrome, due to mutations of SDHB, SDHC and SDHD genes. SDHD founder effects have been described in the Netherland, USA, Italy and Spain.We identified a new founder effect in a small geographic area (Valsugana-Trentino, actually 50.000 inhabitants), with high a...

ea0029p782 | Endocrine tumours and neoplasia | ICEECE2012

Urinary steroid profiling demonstrates induction of CYP3A4 and inhibition of 5alpha-reductase by mitotane treatment for adrenocortical carcinoma

Taylor A. , Chortis V. , Schneider P. , Tomlinson J. , Hughes B. , Smith D. , Libe R. , Allolio B. , Bertagna X. , Bertherat J. , Beuschlein F. , Fassnacht M. , Mannelli M. , Mantero F. , Opocher G. , Porfiri E. , Quinkler M. , Terzolo M. , Shackelton C. , Stewart P. , Hanher S. , Arlt W.

Mitotane (o,p’DDD) is commonly used for the treatment of adrenocortical carcinoma (ACC), both for advanced disease and in the adjuvant setting. Mitotane induces adrenal insufficiency but specific effects on steroidogenic enzymes are unknown.We investigated 24-h urinary steroid metabolite excretion in ACC patients on adjuvant mitotane (AD) or mitotane for metastatic disease (MET). We compared samples collected before mitotane treatment (BEFORE; MET <...